Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report
Background Submucous cleft palate (SMCP) has a heterogeneous presentation and is often identified late or misdiagnosed.…
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Publications
Working alongside leading hospitals and research teams worldwide, we’re developing new approaches to patient care and accelerating scientific discovery. Our technology has supported thousands of published studies. Below you’ll find a curated selection.
Showing 111 publications
GeneReviews: Koolen-de Vries Syndrome
Clinical characteristics. Koolen-de Vries syndrome (KdVS) is characterized by developmental delay/intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and…
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Quantifying ultrasonic mouse vocalizations using acoustic analysis in a supervised statistical machine learning framework
Examination of rodent vocalizations in experimental conditions can yield valuable insights into how disease manifests and…
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ParkinSong: A controlled trial of singing-based therapy for Parkinson’s disease
Background: Communication impairment is one of the most common symptoms of Parkinson’s disease (PD), significantly affecting…
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Autosomal recessive cerebellar ataxias: Paving the way toward targeted molecular therapies – by our long-time collaborator Prof Matthis Synofzik (Tuebingen)
Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare degenerative and metabolic genetic diseases that…
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Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Purpose The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and…
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